Biotin-thiamine-responsive basal ganglia disease is a devastating autosomal recessive inherited neurological disorder. We conducted a retrospective chart review of all patients with biotin-thiamine-responsive basal ganglia disease who underwent a formal psychological assessment. Six females and 3 males were included. Five patients (56%) had an average IQ, two patients (22%) had mild delay, and two (22%) had severe delay. A normal outcome was directly related to the time of diagnosis and initiation of treatment...

BACKGROUND: Movement pattern variations are reflective of behavioural switches, likely associated with different life history traits in response to the animals' abiotic and biotic environment. Detecting these can provide rich information on the underlying processes driving animal movement patterns. However, extracting these signals from movement time series, requires tools that objectively extract, describe and quantify these behaviours. The inference of behavioural modes from movement patterns has been mainly addressed through hidden Markov models...

The preservation of the spatial relationships among axonal pathways has long been studied and known to be critical for many functions of the brain. Being a fundamental property of the brain connections, there is an intuitive understanding of topographic regularity in neuroscience but yet to be systematically explored in connectome imaging research. In this work, we propose a general mathematical model for topographic regularity of fiber bundles that is consistent with its neuroanatomical understanding. Our model is based on a novel group spectral graph analysis (GSGA) framework motivated by spectral graph theory and tensor decomposition...

Whether executive functioning deficits result in children experiencing learning difficulties is presently unclear. Yet evidence for these hypothesized causal relations has many implications for early intervention design and delivery. We used a multi-year panel design, multiple criterion and predictor variable measures, extensive statistical control for potential confounds including autoregressive prior histories of both reading and mathematics difficulties, and additional epidemiological methods to preliminarily examine these hypothesized relations...

Whereas the last Century of science was characterized by epistemological uncertainty; the current Century will likely be characterized by ontological complexity (Gorban and Yablonsky, 2013). Advances in Systems Theory by mathematical biologist Robert Rosen suggest an elegant way forward (Rosen, 2013). "R-theory" (Kineman, 2012) is a synthesis of Rosen's theories explaining complexity and life in terms of a meta-model for 'whole' systems (and their fractions) in terms of "5(th)-order holons". Such holons are Rosen modeling relations relating system-dependent processes with their formative contexts via closed cycles of four archetypal (Aristotelian) causes...

INTRODUCTION: Many patients are affected by various conditions, which make it impossible to calculate body mass index (BMI) by measuring weight and height. For this reason, the purpose of this study was to develop a mathematical tool that allows the approximate calculation of the brachial circumference for diagnosis and follow-up. The formula proposed for both sexes is: brachial circumference (cm)×30/32. Results≥28 must be added 2 points. MATERIAL AND METHODS: Prospective, descriptive, observational study performed in a primary care clinic, including 224 men and 248 women...

Micelle cluster distributions from molecular dynamics simulations of a solvent-free coarse-grained model of sodium octyl sulfate (SOS) have been analyzed using an improved method to extract equilibrium association constants from small-system simulations, containing one or two micelle clusters at equilibrium with free surfactants and counterions. The statistical-thermodynamic and mathematical foundations of this "Partition-Enabled Analysis of Cluster Histograms" (PEACH) approach are presented. A dramatic reduction in computational time for analysis is achieved through a strategy similar to the "selector variable method" to circumvent the need for exhaustive enumeration of the possible partitions of surfactants and counterions into clusters...

OBJECTIVE: Point-of-care (POC) management may avert ongoing transmissions occurring between testing and treatment or due to loss to follow-up. We modelled the impact of POC management of anogenital gonorrhoea (with light microscopic evaluation of Gram stained smears) among men who have sex with men (MSM) on gonorrhoea prevalence and testing and treatment costs. METHODS: Data concerning costs and sexual behaviour were collected from the STI clinic of Amsterdam. With a deterministic model for gonorrhoea transmission, we calculated the prevalence of gonorrhoea in MSM in Amsterdam and the numbers of consultations at our clinic over 5 years, in three testing scenarios: POC for symptomatic MSM only (currently routine), POC for all MSM and no POC for MSM...

PURPOSE: To externally validate a mathematical formula for tumor contact surface area (CSA) as a predictor of post-operative renal function in patients undergoing partial nephrectomy for renal cell carcinoma. MATERIALS AND METHODS: A prospectively maintained kidney cancer database was queried for patients who underwent partial nephrectomy between 2014 and 2016. CSA was calculated using data obtained from pre-operative cross sectional imaging. The correlation between CSA and peri-operative variables was examined...

A central composite design was implemented to study the effect of three factors on HHP-induced L. monocytogenes inactivation in Spanish chorizo sausage, in order to increase its effectiveness: product aw (0.79-0.92), pressure intensities (349-600 MPa, at 18 °C) and holding time (0-12.53 min). Response surface methodology was implemented with backward stepwise regression to generate a model that best fitted to the experimental data. All the three factors studied significantly influenced HHP inactivation of L...

Biological processes often manifest themselves as coordinated changes across modules, i.e., sets of interacting genes. Commonly, the high dimensionality of genome-scale data prevents the visual identification of such modules, and straightforward computational search through a set of known pathways is a limited approach. Therefore, tools for the data-driven, computational, identification of modules in gene interaction networks have become popular components of visualization and visual analytics workflows. However, many such tools are known to result in modules that are large, and therefore hard to interpret biologically...

Na(+) excretion by the kidney varies according to dietary Na(+) intake. We undertook a systematic study on the effects of dietary salt intake on glomerular filtration rate (GFR) and tubular Na(+) reabsorption. We examined the renal adaptive response in mice subjected to 7 days of a low sodium diet (LSD) containing 0.01% Na(+) , a normal sodium diet (NSD) containing 0.18% Na(+) , as well as a moderately high sodium diet (HSD) containing 1.25% Na(+) . As expected, LSD did not alter measured GFR and increased the abundance of total and cell-surface NHE3, NKCC2, NCC, α-ENaC, and cleaved γ-ENaC compared to NSD...

A minimally invasive ventricular assist device is under development for percutaneous insertion into the left atrium via transseptal access from the right atrium (RA). This study aimed to mathematically describe the vascular anatomy along possible insertion pathways to determine the device's maximum outer dimensions. We developed 2-dimensional mathematical models describing the vascular anatomy to the RA from three access points: subclavian vein (SCV), internal jugular vein (IJV), and femoral vein (FV). All pathways terminated by turning from the superior or inferior vena cava (SVC/IVC) into the RA...

HIV infection is one of the most difficult infections to control and manage. The most recent recommendations to control this infection vary according to the guidelines used (US, European, WHO) and are not patient-specific. Unfortunately, no two individuals respond to infection and treatment quite the same way. The purpose of this paper is to make use of the uncertainty and sensitivity analysis to investigate possible short-term treatment options that are patient-specific. We are able to identify the most significant parameters that are responsible for ART outcome and to formulate some insights into the ART success...

In this work, we propose a fractional Poisson-Nernst-Planck model to describe ion permeation in gated ion channels. Due to the intrinsic conformational changes, crowdedness in narrow channel pores, binding and trapping introduced by functioning units of channel proteins, ionic transport in the channel exhibits a power-law-like anomalous diffusion dynamics. We start from continuous-time random walk model for a single ion and use a long-tailed density distribution function for the particle jump waiting time, to derive the fractional Fokker-Planck equation...

Asymptotic methods can greatly simplify the analysis of all but the simplest mathematical models and should therefore be commonplace in such biological areas as ecology and epidemiology. One essential difficulty that limits their use is that they can only be applied to a suitably scaled dimensionless version of the original dimensional model. Many books discuss nondimensionalization, but with little attention given to the problem of choosing the right scales and dimensionless parameters. In this paper, we illustrate the value of using asymptotics on a properly scaled dimensionless model, develop a set of guidelines that can be used to make good scaling choices, and offer advice for teaching these topics in differential equations or mathematical biology courses...

The kinetochore is a large, evolutionarily conserved protein structure that connects chromosomes with microtubules. During chromosome segregation, outer kinetochore components track depolymerizing ends of microtubules to facilitate the separation of chromosomes into two cells. In budding yeast, each chromosome has a point centromere upon which a single kinetochore is built, which attaches to a single microtubule. This defined architecture facilitates quantitative examination of kinetochores during the cell cycle...

Integrating the costs and benefits of collective behaviors is a fundamental challenge to understanding the evolution of group living. These costs and benefits can rarely be quantified simultaneously due to the complexity of the interactions within the group, or even compared to each other because of the absence of common metrics between them. The construction of 'living bridges' by New World army ants - which they use to shorten their foraging trails - is a unique example of a collective behavior where costs and benefits have been experimentally measured and related to each other...

Recommended by the World Health Organization (WHO), drug compounds have been classified into 14 main ATC (Anatomical Therapeutic Chemical) classes according to their therapeutic and chemical characteristics. Given an uncharacterized compound, can we develop a computational method to fast identify which ATC class or classes it belongs to? The information thus obtained will timely help adjusting our focus and selection, significantly speeding up the drug development process. But this problem is by no means an easy one since some drug compounds may belong to two or more than two ATC classes...